ClinVar Miner

Submissions for variant NM_052872.4(IL17F):c.254+1G>T

gnomAD frequency: 0.00070  dbSNP: rs117796773
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490407 SCV000267362 uncertain significance Candidiasis, familial, 6 2016-03-18 criteria provided, single submitter reference population
Illumina Laboratory Services,Illumina RCV000490407 SCV000464146 likely benign Candidiasis, familial, 6 2018-04-13 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000490407 SCV001107625 benign Candidiasis, familial, 6 2021-11-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001795344 SCV002035221 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001795344 SCV002038180 uncertain significance not provided no assertion criteria provided clinical testing

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